MGC32805
Basic information
Region (hg38): 5:122436497-122479208
Links
Phenotypes
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MGC32805 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
Variants in MGC32805
This is a list of pathogenic ClinVar variants found in the MGC32805 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-122440626-T-C | Parkinson Disease, Dominant/Recessive | Uncertain significance (Jan 12, 2018) | ||
| 5-122440630-A-G | not specified | Uncertain significance (Mar 21, 2022) | ||
| 5-122440690-T-C | not specified | Uncertain significance (Dec 14, 2023) | ||
| 5-122440713-G-A | not specified | Uncertain significance (Sep 01, 2023) | ||
| 5-122440732-A-G | not specified | Uncertain significance (Oct 13, 2023) | ||
| 5-122444588-T-C | Parkinson Disease, Dominant/Recessive | Uncertain significance (Jan 13, 2018) | ||
| 5-122444605-G-A | not specified | Uncertain significance (May 16, 2022) | ||
| 5-122444631-C-T | Likely benign (Jan 10, 2018) | |||
| 5-122444636-G-A | Parkinson Disease, Dominant/Recessive | Uncertain significance (Apr 27, 2017) | ||
| 5-122444650-C-T | Parkinson Disease, Dominant/Recessive | Likely benign (Nov 06, 2018) | ||
| 5-122444711-A-G | not specified | Uncertain significance (May 12, 2024) | ||
| 5-122449894-G-A | not specified | Uncertain significance (May 30, 2023) | ||
| 5-122449913-G-A | Likely benign (Dec 31, 2019) | |||
| 5-122450571-A-C | not specified | Uncertain significance (May 27, 2022) | ||
| 5-122450572-A-G | Benign (Dec 20, 2018) | |||
| 5-122450658-C-G | Parkinson Disease, Dominant/Recessive | Uncertain significance (Jan 13, 2018) | ||
| 5-122450663-C-T | not specified | Uncertain significance (Jul 05, 2023) | ||
| 5-122450664-G-A | Parkinson Disease, Dominant/Recessive | Uncertain significance (Apr 28, 2017) | ||
| 5-122450708-C-T | Parkinson disease, late-onset • Parkinson Disease, Dominant/Recessive | Likely benign (Feb 01, 2024) | ||
| 5-122450709-G-A | not specified | Uncertain significance (Dec 07, 2021) | ||
| 5-122450760-T-C | not specified | Uncertain significance (Feb 24, 2022) | ||
| 5-122450786-G-C | Parkinson Disease, Dominant/Recessive | Uncertain significance (Jan 13, 2018) | ||
| 5-122450816-C-T | Parkinson Disease, Dominant/Recessive | Uncertain significance (Jan 12, 2018) | ||
| 5-122450853-A-C | not specified | Uncertain significance (Apr 28, 2023) | ||
| 5-122450869-A-G | Parkinson Disease, Dominant/Recessive | Uncertain significance (Jan 12, 2018) |
GnomAD
Source:
dbNSFP
Source: